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A case of Shwachman syndrome with increased spontaneous chromosome breakage

✍ Scribed by H. Tada; T. Ri; H. Yoshida; K. Ishimoto; M. Kaneko; Y. Yamashiro; T. Shinohara


Book ID
104704466
Publisher
Springer
Year
1987
Tongue
English
Weight
269 KB
Volume
77
Category
Article
ISSN
0340-6717

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✦ Synopsis


In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals. The patient's lymphocytes did not show increased sensitivity to mitomycin C.


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Cytogenetic studies in Wiskott-Aldrich s
✍ Johnson, M. P. ;Filipovich, A. H. ;Opitz, John M. ;Reynolds, James F. πŸ“‚ Article πŸ“… 1986 πŸ› John Wiley and Sons 🌐 English βš– 497 KB πŸ‘ 2 views

Lymphocytes from patients with Wiskott-Aldrich syndrome (WAS) were studied 1) with prometaphase G banding to search for minor chromosome anomalies and 2) in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to hav